|
1
|
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
|
J Med Genet
|
2009
|
1.31
|
|
2
|
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
|
Neuropediatrics
|
2008
|
1.15
|
|
3
|
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
Eur J Hum Genet
|
2001
|
1.10
|
|
4
|
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
|
Ophthalmology
|
2005
|
1.04
|
|
5
|
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.
|
J Med Genet
|
2001
|
0.95
|
|
6
|
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
|
Br J Ophthalmol
|
2005
|
0.92
|
|
7
|
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family.
|
J Med Genet
|
2001
|
0.83
|
|
8
|
[Van-der-Woude Syndrome].
|
Klin Padiatr
|
2007
|
0.80
|
|
9
|
Mutation spectrum of type I glycogen storage disease in Hungary.
|
J Inherit Metab Dis
|
2005
|
0.76
|
|
10
|
Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants.
|
Early Hum Dev
|
1999
|
0.76
|
|
11
|
[Application of indirect calorimetry in monitoring feeding of low birth-weight preterm infants].
|
Klin Padiatr
|
1999
|
0.75
|